1ItalyF/38<1—NoSevere276delT/2157delAFS/FS4/16HeterozygousTth111II (+)/BsmAI (+)
Case: 1, F, 38, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
276delT (FS), Exon 4
2157delA (FS), Exon 16
Homozygous